Revel Score:
ENST00000540413
0.933
ENST00000263431 (MANE Select)
0.933
ENST00000542049
0.933
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.53900612G>T , CM000681.2:g.53900612G>T | GRCh38 |
| NC_000019.9:g.54403866G>T , CM000681.1:g.54403866G>T | GRCh37 |
| NC_000019.8:g.59095678G>T | NCBI36 |
| NG_009114.1:g.23400G>T , LRG_669:g.23400G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682028.1:c.1438G>T | ENSP00000507230.1:p.Asp480Tyr | |
| ENST00000682268.1:n.1736G>T | ||
| ENST00000682676.1:n.839G>T | ||
| ENST00000682902.1:n.1740G>T | ||
| ENST00000683513.1:c.1438G>T | ENSP00000506809.1:p.Asp480Tyr | |
| ENST00000263431.4:c.1438G>T MANE Select | ENSP00000263431.3:p.Asp480Tyr | |
| ENST00000263431.3:c.1438G>T | ENSP00000263431.3:p.Asp480Tyr | |
| NM_001316329.1:c.1438G>T | NP_001303258.1:p.Asp480Tyr | |
| NM_002739.3:c.1438G>T , LRG_669t1:c.1438G>T | NP_002730.1:p.Asp480Tyr | |
| NM_002739.4:c.1438G>T | NP_002730.1:p.Asp480Tyr | |
| XM_011527108.1:c.529G>T | XP_011525410.1:p.Asp177Tyr | |
| NM_002739.5:c.1438G>T MANE Select | NP_002730.1:p.Asp480Tyr | |
| NM_001316329.2:c.1438G>T | NP_001303258.1:p.Asp480Tyr |